The goal of the GDI project is to create a cross-border platform for the collection of genomic data for biomedical research and individualized medical solutions. The project is financed by the funds of the European Commission through the Digital Europe Program and by the countries participating in the project.

The GoE project will create the first large-scale repository of genomic and phenotypic data in Europe, filling an important existing gap and removing dependence from non-European repositories for research and clinical applications. At the same time, it will also improve competitiveness by building key expertise and facilities for large-scale genomic analyses paving the way for additional data collection in the future. This project will bring Europe in line with similar ongoing projects in other countries including the US, China and Qatar. The benefits for society include applications in personalised medicine as well as the development of intellectual property in the EU based on complex large-scale genome data.

EASIGEN-DS is about the establishment of a distributed European Research Infrastructure (RI) on Advanced Genomics Technologies. The project aims to become a world-leading research infrastructure in genomics, which is fully integrated into the European landscape. The project is expected to strengthen European capacity in sequencing technology, with a particular focus on third-generation sequencing offering longer reads and the ability to sequence without the need for amplification, and on single cell genomics and spatial transcriptomics.

Although variants of uncertain significance (VUS) cannot be clearly defined and classified, VUS make up about 40% of the total variants in human, and their impact on the function or health of the organism is not known. It is necessary to implement a new and systematic experimental approach for the characterization of VUS at high throughput, and to contribute to the reduction of the amount of VUS in the relevant databases for a better understanding of genomic variation in humans.